ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)

gnomAD frequency: 0.00076  dbSNP: rs28446339
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123023 SCV000166318 benign Gorlin syndrome 2021-12-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000192519 SCV000248614 likely benign not specified 2015-07-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000192519 SCV000303348 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000382314 SCV000481276 benign Holoprosencephaly 7 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services,Illumina RCV000123023 SCV000481277 benign Gorlin syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000192519 SCV000514303 benign not specified 2016-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000561999 SCV000674451 benign Hereditary cancer-predisposing syndrome 2017-03-14 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000192519 SCV002556099 benign not specified 2022-06-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000192519 SCV002035271 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000192519 SCV002035432 benign not specified no assertion criteria provided clinical testing

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